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Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania


Ware, TL and Huskins, SR and Grinton, BE and Liu, YC and Bennett, MF and Harvey, M and McMahon, J and Andreopoulos-Malikotsinas, D and Bahlo, M and Howell, KB and Hildebrand, MS and Damiano, JA and Rosenfeld, A and Mackay, MT and Mandelstam, S and Leventer, RJ and Harvey, AS and Freeman, JL and Scheffer, IE and Jones, DL and Berkovic, SF, Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania, Epilepsia Open, 4, (3) pp. 504-510. ISSN 2470-9239 (2019) [Refereed Article]

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DOI: doi:10.1002/epi4.12350


We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephalopathies (DEEs) in a population isolate, with an intensive multistage approach. Infants born in Tasmania between 2011 and 2016, with seizure onset <2 years of age, epileptiform EEG, frequent seizures, and developmental impairment, were included. Following review of EEG databases, medical records, brain MRIs, and other investigations, clinical genetic testing was undertaken with subsequent research interrogation of whole exome sequencing (WES) in unsolved cases. The incidence of infantile DEEs was 0.44/1000 per year (95% confidence interval 0.25 to 0.71), with 16 cases ascertained. The etiology was structural in 5/16 cases. A genetic basis was identified in 6 of the remaining 11 cases (3 gene panel, 3 WES). In two further cases, WES identified novel variants with strong in silico data; however, paternal DNA was not available to support pathogenicity. The etiology was not determined in 3/16 (19%) cases, with a candidate gene identified in one of these. Pursuing clinical imaging and genetic testing followed by WES at an intensive research level can give a high diagnostic yield in the infantile DEEs, providing a solid base for prognostic and genetic counseling.

Item Details

Item Type:Refereed Article
Keywords:developmental and epileptic encephalopathy, incidence, whole exome sequencing
Research Division:Medical and Health Sciences
Research Group:Neurosciences
Research Field:Neurology and Neuromuscular Diseases
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Nervous System and Disorders
UTAS Author:Huskins, SR (Ms Shannon Huskins)
ID Code:136743
Year Published:2019
Deposited By:Medicine
Deposited On:2020-01-16
Last Modified:2020-01-16

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